Genomic variant #0001354689

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.96813521C>T
Reference Copied from the Exome Variant Server
DB-ID ATG2B_000321
Frequency 3/12012
Freq. EA 2/8214
Freq. AA 1/3798
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ATG2B NM_018036.5 ?/? c.320G>A r.(?) p.(Arg107His)